Total 40 clinical symptoms reported for DE SANCTIS-CACCHIONE SYNDROME 
Babinski sign Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
 
Synonyms:Extensor plantar reflexes; Extensor plantar response; Extensor plantar responses; Positive Babinski sign
Very frequent
Bilateral cryptorchidism Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
 
Synonyms:Cryptorchidism, bilateral
Very frequent
Cutaneous photosensitivity An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.
 
Synonyms:Photosensitive skin; Photosensitive skin rashes; Photosensitivity; Sensitivity to sunlight; Skin photosensitivity; Sun sensitivity
Very frequent
Equinovarus deformity This section is currently in development.
 
Very frequent
Global developmental delay A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
 
Synonyms:Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development
Very frequent
Hypermelanotic macule A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.
 
Synonyms:Hyperpigmented macules; Hyperpigmented spots
Very frequent
Hyporeflexia Reduction of neurologic reflexes such as the knee-jerk reaction.
 
Synonyms:Decreased reflex response; Decreased reflexes
Very frequent
Intellectual disability The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.
 
Synonyms:Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation
Very frequent
Leukodystrophy Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.
 
Synonyms:Degeneration of white matter of brain
Very frequent
Mental deterioration Loss of previously present mental abilities, generally in adults.
 
Synonyms:Cognitive decline; Cognitive decline, progressive; Intellectual deterioration; Mental deterioration; Progressive cognitive decline
Very frequent
Microcephaly Head circumference below 2 standard deviations below the mean for age and sex.
 
Synonyms:Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference
Very frequent
Olivopontocerebellar atrophy Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus.
 
Synonyms:Olivopontocerebellar degeneration
Very frequent
Telangiectasia Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.
 
Synonyms:Telangiectases
Very frequent